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1دورية أكاديمية
المصدر: Neurobiology of Disease, Vol 159, Iss , Pp 105488- (2021)
مصطلحات موضوعية: Spinal muscular atrophy (SMA), Survival motor neuron (SMN), Antisense oligonucleotides, Electrophysiology, Risdiplam, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Anton J. Blatnik, Vicki L. McGovern, Arthur H. M. Burghes
المصدر: International Journal of Molecular Sciences, Vol 22, Iss 16, p 8494 (2021)
مصطلحات موضوعية: SMA, spinal muscular atrophy, genetics, biochemistry, SMN function, SMN missense mutants, Biology (General), QH301-705.5, Chemistry, QD1-999
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: W. Arnold, Vicki L. McGovern, Benjamin Sanchez, Jia Li, Kaitlyn M. Corlett, Stephen J. Kolb, Seward B. Rutkove, Arthur H. Burghes
المصدر: Neurobiology of Disease, Vol 87, Iss , Pp 116-123 (2016)
مصطلحات موضوعية: Spinal muscular atrophy, Biomarker, Survival motor neuron, Antisense oligonucleotide, Electrical impedance myography, Motor unit number estimation, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571
وصف الملف: electronic resource
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المؤلفون: Arthur H.M. Burghes, Caroline Hsieh, Jerry R. Mendell, Douglas M. Sproule, Binh T. T. Chu, Kevin D. Foust, Douglas E. Feltner, Wendy K. Chung, Francesco Muntoni, Mariacristina Scoto, Christopher R. Pierson, Miriam R Conces, Stephanie Perry, Gretchen Thomsen, Petra Kaufmann, Robert F. Hevner, Basam Barkho, Janet Do, Vicki L. McGovern
المصدر: Nature Medicine. 27:1701-1711
مصطلحات موضوعية: Mutation, Pathology, medicine.medical_specialty, Messenger RNA, business.industry, Genetic enhancement, Central nervous system, General Medicine, Spinal muscular atrophy, SMN1, Motor neuron, medicine.disease, medicine.disease_cause, General Biochemistry, Genetics and Molecular Biology, medicine.anatomical_structure, Systemic administration, medicine, business
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5
المؤلفون: Aurélie Massoni-Laporte, Kaitlyn M Kray, Daniel J. Battle, Eileen Workman, Vicki L. McGovern, Arthur H.M. Burghes, W. David Arnold, Sandra I Duque, Chitra C. Iyer, Aalapi Patel
المصدر: Hum Mol Genet
مصطلحات موضوعية: animal diseases, Transgene, Mutation, Missense, SMN1, Biology, medicine.disease_cause, Muscular Atrophy, Spinal, Mice, 03 medical and health sciences, 0302 clinical medicine, Genetics, medicine, Animals, Humans, Missense mutation, Genetic Predisposition to Disease, snRNP, Amino Acids, Allele, Molecular Biology, Alleles, Genetics (clinical), 030304 developmental biology, Mice, Knockout, Motor Neurons, 0303 health sciences, Mutation, SMN Complex Proteins, Exons, General Medicine, Spinal muscular atrophy, Ribonucleoproteins, Small Nuclear, medicine.disease, Survival of Motor Neuron 1 Protein, nervous system diseases, Survival of Motor Neuron 2 Protein, Complementation, Disease Models, Animal, nervous system, General Article, Protein Multimerization, 030217 neurology & neurosurgery
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f3cf3d2609fc8ef875eaf6cba8f65947
https://doi.org/10.1093/hmg/ddaa235 -
6دورية أكاديمية
المؤلفون: W David Arnold, Sandra Duque, Chitra C Iyer, Phillip Zaworski, Vicki L McGovern, Shannon J Taylor, Katharine M von Herrmann, Dione T Kobayashi, Karen S Chen, Stephen J Kolb, Sergey V Paushkin, Arthur H M Burghes
المصدر: PLoS ONE, Vol 11, Iss 12, p e0167077 (2016)
وصف الملف: electronic resource
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7
المؤلفون: Kevin D. Foust, Xueyong Wang, Vicki L. McGovern, Lyndsey Braun, Adam K. Bevan, Amanda M. Haidet, Thanh T. Le, Pablo R. Morales, Mark M. Rich, Arthur H. M. Burghes, Brian K. Kaspar
المصدر: Nature Biotechnology. 40:1692-1692
مصطلحات موضوعية: Biomedical Engineering, Molecular Medicine, Bioengineering, Applied Microbiology and Biotechnology, Biotechnology
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8دورية أكاديمية
المؤلفون: Vicki L McGovern, Aurélie Massoni-Laporte, Xueyong Wang, Thanh T Le, Hao T Le, Christine E Beattie, Mark M Rich, Arthur H M Burghes
المصدر: PLoS ONE, Vol 10, Iss 7, p e0132364 (2015)
وصف الملف: electronic resource
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9
المؤلفون: Arthur H.M. Burghes, Brian K. Kaspar, Vicki L. McGovern, Chitra C. Iyer, Thanh Le, Anton J. Blatnik
المصدر: Hum Mol Genet
مصطلحات موضوعية: Cell Survival, animal diseases, Mutant, Mutation, Missense, SMN1, Biology, medicine.disease_cause, Muscular Atrophy, Spinal, 03 medical and health sciences, Exon, Mice, Genetics, medicine, Missense mutation, Animals, Humans, snRNP, Molecular Biology, Genetics (clinical), Alleles, 030304 developmental biology, 0303 health sciences, Mutation, Integrases, 030305 genetics & heredity, Gene Expression Regulation, Developmental, General Medicine, Spinal muscular atrophy, Exons, Fibroblasts, medicine.disease, Ribonucleoproteins, Small Nuclear, Survival of Motor Neuron 1 Protein, nervous system diseases, Survival of Motor Neuron 2 Protein, Disease Models, Animal, nervous system, General Article, Small nuclear ribonucleoprotein
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::000e429c6398eb94452aaf45f27cf493
https://pubmed.ncbi.nlm.nih.gov/33075805 -
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المصدر: Neurobiol Dis
Neurobiology of Disease, Vol 159, Iss, Pp 105488-(2021)مصطلحات موضوعية: Morpholino, Risdiplam, Neuromuscular Junction, Action Potentials, Neurosciences. Biological psychiatry. Neuropsychiatry, SMN1, Spinal Muscular Atrophies of Childhood, Article, Morpholinos, Mice, Exon, medicine, Animals, Muscle, Skeletal, Mice, Knockout, Antisense oligonucleotides, business.industry, Survival motor neuron (SMN), Spinal muscular atrophy, Oligonucleotides, Antisense, Motor neuron, medicine.disease, SMA, Spinal muscular atrophy (SMA), Survival of Motor Neuron 1 Protein, Muscle atrophy, nervous system diseases, Electrophysiology, Motor unit, Disease Models, Animal, Pyrimidines, medicine.anatomical_structure, nervous system, Neurology, Pyrazines, Asymptomatic Diseases, Cancer research, medicine.symptom, business, RC321-571